Pubmed du 21/11/11

Pubmed du jour

2011-11-21 12:03:50

1. Brookman-Frazee LI, Drahota A, Stadnick N. {{Training Community Mental Health Therapists to Deliver a Package of Evidence-Based Practice Strategies for School-Age Children with Autism Spectrum Disorders: A Pilot Study}}. {J Autism Dev Disord};2011 (Nov 21)

Research on moving evidence-based practice (EBP) intervention strategies to community service settings for children with autism spectrum disorders (ASD) is urgently needed. The current pilot study addresses this need by examining the feasibility, acceptability and preliminary outcomes of training therapists practicing in community mental health (CMH) clinics to deliver a package of EBP strategies aimed to reduce challenging behaviors in school-age children with ASD. Results indicate that CMH therapists participated in both initial and ongoing training, were able to deliver the intervention with fidelity, and perceived the intervention strategies as useful. Parents participated in almost all sessions with their children and remained in therapy when therapists delivered the intervention. Meaningful reductions in child problem behaviors occurred over 5 months providing promising support for the intervention.

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2. Grynszpan O, Nadel J, Martin JC, Simonin J, Bailleul P, Wang Y, Gepner D, Le Barillier F, Constant J. {{Self-Monitoring of Gaze in High Functioning Autism}}. {J Autism Dev Disord};2011 (Nov 21)

Atypical visual behaviour has been recently proposed to account for much of social misunderstanding in autism. Using an eye-tracking system and a gaze-contingent lens display, the present study explores self-monitoring of eye motion in two conditions: free visual exploration and guided exploration via blurring the visual field except for the focal area of vision. During these conditions, thirteen students with High Functioning Autism Spectrum Disorders (HFASD) and fourteen typical individuals were presented naturalistic and interactive social stimuli using virtual reality. Fixation data showed a weaker modulation of eye movements according to the conditions in the HFASD group, thus suggesting impairments in self-monitoring of gaze. Moreover, the gaze-contingent lens induced a visual behaviour whereby social understanding scores were correlated with the time spent gazing at faces. The device could be useful for treating gaze monitoring deficiencies in HFASD.

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3. Guo W, Murthy AC, Zhang L, Johnson EB, Schaller EG, Allan AM, Zhao X. {{Inhibition of GSK3beta improves hippocampus-dependent learning and rescues neurogenesis in a mouse model of fragile X syndrome}}. {Hum Mol Genet};2011 (Nov 21)

Fragile X syndrome (FXS), a common inherited form of intellectual disability with learning deficits, results from a loss of fragile X mental retardation protein (FMRP). Despite extensive research, treatment options for FXS remain limited. Since FMRP is known to play an important role in adult hippocampal neurogenesis and hippocampus-dependent learning and FMRP regulates the adult neural stem cell fate through the translational regulation of glycogen synthase kinase 3beta (GSK3beta), we investigated the effects of a GSK3beta inhibitor, SB216763, on Fmr1 knockout mice (Fmr1 KO). We found that the inhibition of GSK3beta could reverse the hippocampus-dependent learning deficits and rescue adult hippocampal neurogenesis at multiple stages in Fmr1 KO mice. Our results point to GSK3beta inhibition as a potential treatment for the learning deficits seen in FXS.

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4. Lim F, Downs J, Li J, Bao XH, Leonard H. {{Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families}}. {Am J Med Genet A};2011 (Nov 21)

Rett syndrome is a rare neurological disorder affecting girls and usually caused by a mutation on the MECP2 gene. It is estimated that approximately 1,000 girls are born every year in China with Rett syndrome but far fewer have received a diagnosis. Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study. Telephone interviews were conducted in Mandarin to explore pathways to a diagnosis of Rett syndrome in China and associated barriers. Families consulted multiple clinical centers and eventually received a diagnosis at a centrally located hospital. Over the course of this pathway, families encountered lack of knowledge and diagnostic expertise for Rett syndrome at local levels and a heavily over-burdened hospital system. There was a paucity of information available to guide management of this rare disorder after the diagnosis had been received. Our study suggests that the frustrations experienced by families could in part be addressed by the provision of information, education, and training related to Rett syndrome for clinicians, additional resources to allow clinicians to request genetic testing for confirmation of the clinical diagnosis and for information and support services for families. (c) 2011 Wiley Periodicals, Inc.

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5. Salomon RG, Hong L, Hollyfield JG. {{Discovery of Carboxyethylpyrroles (CEPs): Critical Insights into AMD, Autism, Cancer, and Wound Healing from Basic Research on the Chemistry of Oxidized Phospholipids}}. {Chem Res Toxicol};2011 (Nov 21);24(11):1803-1816.

Basic research, exploring the hypothesis that 2-(omega-carboxyethyl)pyrrole (CEP) modifications of proteins are generated nonenzymatically in vivo is delivering a bonanza of molecular mechanistic insights into age-related macular degeneration, autism, cancer, and wound healing. CEPs are produced through covalent modification of protein lysyl epsilon-amino groups by gamma-hydroxyalkenal phospholipids that are formed by oxidative cleavage of docosahexaenate-containing phospholipids. Chemical synthesis of CEP-modified proteins and the production of highly specific antibodies that recognize them preceded and facilitated their detection in vivo and enabled exploration of their biological occurrence and activities. This investigational approach, from the chemistry of biomolecules to disease phenotype, is proving to be remarkably productive.

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